Pierre Robin Syndrome

Pierre Robin Syndrome is characterized by the triad, or “sequence” of findings: micrognathia (small lower jaw), glossoptosis (the tongue tends to fall back and downwards) and airway compromise.  Often there is an associated cleft of the soft palate resulting from the posteriorly displaced tongue interfering with normal palate development in utero. As a result of the physical characteristics of Pierre Robin Syndrome, both feeding and breathing difficulties are often present in varying degrees of severity.

The causes of Pierre Robin Syndrome are unknown, however Robin sequence is seen in a number of genetic syndromes. Those children born with a cleft palate should also be seen by an Ear, Nose and Throat (ENT) specialist who will carefully monitor fluid buildup behind the ear.

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Initially when airway obstruction occurs, the primary goal is to create an adequate airway by using distractor techniques that prevent the need for a tracheostomy. If left untreated, patients have problems with feeding, obstructive sleep apnea, ear infections and reduced hearing. In more mild cases, the neonate may be placed in a prone position, or a nasopharyngeal tube may be inserted through the nose to maintain airway patency.

Sometimes a tongue lip adhesion may be performed, sewing the posteriorly displaced tongue forward to the inside of the lower lip and in turn opening the airway.  This adhesion is released at a later date after the goals of improved feeding and growth have allowed the airway to enlarge.  The benefit of this less intrusive procedure is no visible facial scars.

Treatment using Distraction Osteogenesis

 

The first step to correction is dependent on the patient’s airway stability. If the airway is extremely compromised, bilateral mandibular osteotomies with distraction osteogenesis may be performed.  This is done to avoid the need for a definitive breathing tube, a tracheostomy, which once placed remains in often for 4-5 years prior to any opportunity for safe removal.  This process allows for the slow forward movement of the jaw and surrounding soft tissues, resulting in an immediate change in the anatomic airway.

Usually this takes less than one week to bring the mandible (lower jaw) forward with the upper jaw, creating a more normal anatomic jaw and improved airway relationship. This procedure takes approximately 3 hours and the patient remains in the hospital 2-3 days after surgery. The parents are instructed on how to turn the distraction device and  typically patients are seen back in the office on a weekly basis. Once the mandible is in a more favorable position, the external turning pins are removed from behind the ear in the office and we await the bone to consolidate.

This consolidation phase takes about 4 weeks for the bone to ossify with enough strength to prevent relapse.  Then the intraoral device is removed from the mandible under anesthesia, which is considered an outpatient procedure.  In neonates, and children less than one year of age, we use a dissolvable distractor that remains in place on the mandible, but reabsorbs in about 1 year, obviating the need for surgical device removal.

For patients with Pierre Robin Syndrome that have an associated cleft palate, typically this is surgically closed around 9-12 months of age. This procedure helps with both speech and feeding issues.

Pierre Robin Syndrome patients continue to be monitored throughout their childhood years for obstructive sleep apnea, mandible growth and any changes in breathing patterns. Occasionally, future surgery is required in these patients in order to obtain normal speech, avoid sleep apnea and assist with jaw alignment.